Targeted Testing

Targeted Variants (Test #100, 200, 300, 990, 1400)

We offer single (Test Code 100), double (Test Code 200), or triple (Test Code 300) exon sequencing for any of the genes on our test menu. Prenatal testing (Test Code 990) is also available, for more information click here. Targeted testing (PCR and/or FISH) of relatives of patients who had copy number testing (del/dup studies via aCGH or chromosomal microarray studies (CMA)) at PreventionGenetics is available via Test Code 1400.

Indications

Candidates for this test are:

  • Family members who may have familial pathogenic variants.
  • Patients wishing to confirm research results.
  • Setting phase of variants.
  • Clarifying interpretation of variants.
Test #100, 200, 300, 990
Prenatal Select a Gene Number of Variants Variant Information CPT Code

Deletions/Duplications via aCGH

Targeted testing (Test Code 1400) for gross deletions/duplications discovered by aCGH will be available for family members of the proband only if we are able to test the del/dup by PCR. If this is not possible, then the full gene deletion/duplication test (Test Code 600) may be necessary. Please contact us if you have questions about ordering family studies for deletions/duplications.

Test #1400
Select a Gene PG ID/Proband Details CPT Code

Pricing

Test Code # of Variants Price
100 1 $250
200 2 $370
300 3 $440
Prenatal - 990 1 - 3 $990
1400 Del/Dup $340

Variants of Unknown Significance (VUS)

Free testing for variants of unknown significance may be offered in up to two family members of probands who had full gene sequencing completed at PreventionGenetics. Free testing for deletion/duplications of unknown significance discovered by aCGH or CMA will be available for up to two family members of the proband only if we are able to test the del/dup by PCR, MLPA, or FISH.

Ordering

Use above to order through myPrevent portal or see our Targeted Variant Test Requisition Form on our Forms page.

Turnaround Time

The great majority of tests are completed within 18 days. STAT testing is available with a 10 calendar TAT but incurs a 25% surcharge. Targeted prenatal testing (Test Code 990) already includes STAT TAT.

Positive Controls

Prenatal testing requests for targeted variants requires positive controls. For other test requests, if a positive control is not provided, negative results will carry a limitation stating that PreventionGenetics did not have the opportunity to verify that we can detect the variant in this family.

Please label the sample and Test Requisition Form: "POSITIVE CONTROL ONLY-No Report". We will not issue a report for samples submitted as positive controls. Please include the outside laboratory report.

Prenatal Testing

Please see our Prenatal Policy for details of prenatal testing. If Test Code 990 is ordered (Targeted Prenatal Variants), parents are offered testing at no charge.